Hassan Hamza, Szalat Raphael
Department of Hematology and Medical Oncology, Boston University Medical Center, Boston, MA, USA.
Medical Oncology, Dana-Farber Cancer Institute, Harvard Medical School, Boston, MA, USA.
Appl Clin Genet. 2021 Apr 29;14:241-254. doi: 10.2147/TACG.S262866. eCollection 2021.
Multiple myeloma (MM) is a heterogeneous disease featured by clonal plasma cell proliferation and genomic instability. The advent of next-generation sequencing allowed unraveling the complex genomic landscape of the disease. Several recurrent genomic aberrations including immunoglobulin genes translocations, copy number abnormalities, complex chromosomal events, transcriptomic and epigenomic deregulation, and mutations define various molecular subgroups with distinct outcomes. In this review, we describe the recurrent genomic events identified in MM impacting patients' outcome and survival. These genomic aberrations constitute new markers that could be incorporated into a prognostication model to eventually guide therapy at every stage of the disease.
多发性骨髓瘤（MM）是一种异质性疾病，其特征为克隆性浆细胞增殖和基因组不稳定。新一代测序技术的出现使人们能够揭示该疾病复杂的基因组格局。包括免疫球蛋白基因易位、拷贝数异常、复杂染色体事件、转录组和表观基因组失调以及突变在内的几种复发性基因组畸变定义了具有不同预后的各种分子亚组。在本综述中，我们描述了在MM中发现的影响患者预后和生存的复发性基因组事件。这些基因组畸变构成了新的标志物，可纳入预后模型，最终在疾病的各个阶段指导治疗。
